Polyvariant Mutant Genes: different haplotypes determining different alterations causing azoospermia

Alonso, Maria-Jesu ́s; Blanco, Alfredo Félix; Fernández‐Burriel, Miguel; Calleja, Jesu ́s; Fernández, Itziar; Sanz, Alberto; Velasco, Eladio; Orriols, Juan José Tellería

doi:10.1002/1438-826x(200012)1:5/6<189::aid-gnfd189>3.0.co;2-n

Cited by 2 publications

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“…Unilateral congenital defects are not uncommon during testis development. In addition to CDRT, unilateral anomalies have been observed for cryptorchidism, anorchia, and vas deferens agenesis associated with cystic fibrosis transmembrane conductance regulator (CFTR) (Schindler et al 1987, Casals et al 1995, Casals et al 2001, Alonso et al 2001, Radpour et al 2008). These observations indicate that the development of the male ductal tract is highly susceptible to genetic insults that result in altered signaling milieus.…”

Section: Discussionmentioning

confidence: 99%

A deficiency of lunatic fringe is associated with cystic dilation of the rete testis

et al. 2009

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Lunatic fringe belongs to a family of β1–3 N-acetyltransferases that modulate the affinity of the Notch receptors for their ligands through the elongation of O-fucose moieties on their extracellular domain. A role for Notch signaling in vertebrate fertility has been predicted by the intricate expression of the Notch receptors and their ligands in the oocyte and granulosa cells of the ovary and the spermatozoa and Sertoli cells of the testis. It has been demonstrated that disruption of Notch signaling by inactivation of lunatic fringe led to infertility associated with pleiotropic defects in follicle development and meiotic maturation of oocytes. Lunatic fringe null males were found to be subfertile. Here, we report that gene expression data demonstrate that fringe and Notch signaling genes are expressed in the developing testis and the intratesticular ductal tract, predicting roles for this pathway during embryonic gonadogenesis and spermatogenesis. Spermatogenesis was not impaired in the majority of the lunatic fringe null males; however, spermatozoa were unilaterally absent in the epididymis of many mice. Histological and immunohistochemical analysis of these testes revealed the development of unilateral cystic dilation of the rete testis. Tracer dye experiments confirm a block in the connection between the rete testis and the efferent ducts. Further, the dye studies demonstrated that many lunatic fringe mutant males had partial blocks of the connection between the rete testis and the efferent ducts bilaterally.

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Section: Discussionmentioning

confidence: 99%